MCID: AMY037
MIFTS: 34

Amyloidosis, Hereditary Renal malady

Genetic diseases, Nephrological diseases, Bone diseases, Rare diseases, Ear diseases, Cardiovascular diseases categories
Download this MalaCard

Summaries for Amyloidosis, Hereditary Renal

About this section
Sources:
65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
Wikipedia:65 Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a... more...

MalaCards: Amyloidosis, Hereditary Renal, also known as hereditary amyloid nephropathy, is related to amyloidosis and familial visceral amyloidosis. An important gene associated with Amyloidosis, Hereditary Renal is FGA (fibrinogen alpha chain), and among its related pathways are Hemostasis and Response to elevated platelet cytosolic Ca2+. The compounds nacl and iohexol have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone.

Description from OMIM:47 105200

Aliases & Classifications for Amyloidosis, Hereditary Renal

About this section
Sources:
47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
hereditary amyloid nephropathy:
Inheritance: Autosomal dominant; Age of onset: Variable


Aliases & Descriptions:

amyloidosis, hereditary renal 47
hereditary amyloid nephropathy 49 62
progressive hereditary glomerulonephritis without deafness 62
amyloidosis, familial visceral 62
familial amyloid nephropathy 49
hereditary renal amyloidosis 49
amyloidosis, ostertag type 49
familial renal amyloidosis 49


External Ids:

OMIM47 105200
ICD10 via Orphanet26 E85.0

Related Diseases for Amyloidosis, Hereditary Renal

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of the top 20 diseases related to Amyloidosis, Hereditary Renal:



Diseases related to amyloidosis, hereditary renal

Symptoms for Amyloidosis, Hereditary Renal

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

105200

Clinical features from OMIM:

105200

Drugs & Therapeutics for Amyloidosis, Hereditary Renal

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Amyloidosis, Hereditary Renal

Search NIH Clinical Center for Amyloidosis, Hereditary Renal

Genetic Tests for Amyloidosis, Hereditary Renal

About this section

Anatomical Context for Amyloidosis, Hereditary Renal

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Amyloidosis, Hereditary Renal:

33
Kidney, Bone

Animal Models for Amyloidosis, Hereditary Renal or affiliated genes

About this section

Publications for Amyloidosis, Hereditary Renal

About this section

Variations for Amyloidosis, Hereditary Renal

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Hereditary Renal:

64
id Symbol AA change Variation ID SNP ID
1APOA1p.Gly50ArgVAR_000609rs28931574
2APOA1p.Leu84ArgVAR_000610
3FGAp.Glu545ValVAR_010731
4FGAp.Arg573LeuVAR_010732
5LYZp.Ile74ThrVAR_004280
6LYZp.Asp85HisVAR_004281

Clinvar genetic disease variations for Amyloidosis, Hereditary Renal:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1LYZNM_000239.2(LYZ): c.221T> C (p.Ile74Thr)single nucleotide variantPathogenicrs121913547GRCh37Chr 12, 69743972: 69743972
2LYZNM_000239.2(LYZ): c.199G> C (p.Asp67His)single nucleotide variantPathogenicrs387906535GRCh37Chr 12, 69743950: 69743950
3LYZNM_000239.2(LYZ): c.244T> C (p.Trp82Arg)single nucleotide variantPathogenicrs387906536GRCh37Chr 12, 69743995: 69743995
4LYZNM_000239.2(LYZ): c.223T> A (p.Phe75Ile)single nucleotide variantPathogenicrs121913549GRCh37Chr 12, 69743974: 69743974
5LYZNM_000239.2(LYZ): c.244T> A (p.Trp82Arg)single nucleotide variantPathogenicrs387906536GRCh37Chr 12, 69743995: 69743995
6FGANM_000508.3(FGA): c.1718G> T (p.Arg573Leu)single nucleotide variantPathogenicrs78506343GRCh37Chr 4, 155506863: 155506863
7FGAFGA, 1-BP DEL, 4897TdeletionPathogenic
8FGANM_021871.2(FGA): c.1634A> T (p.Glu545Val)single nucleotide variantPathogenicrs121909612GRCh37Chr 4, 155506947: 155506947
9FGAFGA, 1-BP DEL, 4904GdeletionPathogenic
10APOA1NM_000039.1(APOA1): c.251T> G (p.Leu84Arg)single nucleotide variantPathogenicrs121912724GRCh37Chr 11, 116707077: 116707077
11APOA1NM_000039.1(APOA1): c.220T> C (p.Trp74Arg)single nucleotide variantPathogenicrs121912726GRCh37Chr 11, 116707108: 116707108
12APOA1NM_000039.1(APOA1): c.593T> C (p.Leu198Ser)single nucleotide variantPathogenicrs121912729GRCh37Chr 11, 116706735: 116706735
13APOA1NM_000039.1(APOA1): c.595G> C (p.Ala199Pro)single nucleotide variantPathogenicrs121912730GRCh37Chr 11, 116706733: 116706733
14B2MNM_004048.2(B2M): c.286G> A (p.Asp96Asn)single nucleotide variantPathogenicrs398122820GRCh37Chr 15, 45007839: 45007839

Expression for genes affiliated with Amyloidosis, Hereditary Renal

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Amyloidosis, Hereditary Renal

Search GEO for disease gene expression data for Amyloidosis, Hereditary Renal.

Pathways for genes affiliated with Amyloidosis, Hereditary Renal

About this section
Sources:
50PathCards, 55Reactome, 30KEGG
See all sources

Compounds for genes affiliated with Amyloidosis, Hereditary Renal

About this section
Sources:
45Novoseek, 51PharmGKB, 29IUPHAR, 24HMDB, 11DrugBank
See all sources

Compounds related to Amyloidosis, Hereditary Renal according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nacl459.5LYZ, FGA
2iohexol459.3FGA, APOA1
3prostacyclin459.2FGA, APOA1
4aspirin45 51 29 2412.2FGA, APOA1
5fibrinogen459.1FGA, APOA1
6acetylcholine45 51 29 24 1113.1APOA1, FGA
7pge2459.0FGA, APOA1
8cholesterol45 29 24 1112.0FGA, APOA1
9lactate458.9FGA, APOA1
10creatinine458.7FGA, APOA1

GO Terms for genes affiliated with Amyloidosis, Hereditary Renal

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Amyloidosis, Hereditary Renal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725628.9FGA, APOA1
2extracellular spaceGO:0056158.5FGA, LYZ, APOA1
3extracellular vesicular exosomeGO:0700628.5FGA, LYZ, APOA1
4extracellular regionGO:0055768.2APOA1, LYZ, FGA

Biological processes related to Amyloidosis, Hereditary Renal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.0FGA, APOA1
2platelet degranulationGO:0025768.9FGA, APOA1
3platelet activationGO:0301688.7FGA, APOA1

Molecular functions related to Amyloidosis, Hereditary Renal according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.1LYZ, APOA1

Products for genes affiliated with Amyloidosis, Hereditary Renal

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyloidosis, Hereditary Renal

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet